Slowly but surely towards better scanning for mutations

Abstract

3065, Aumum. As the number of dii genes described and the number of candi- date genes for diseases increases, so does the need for better DNA scan- ning methods. Notionally, the search for unknown mutations in DNA should be simple, thus, surely all one needs to do is to sequence the DNA. The reason why this does not appear to be true is complex, but perhaps the three major reasons are: (1) that the number of laboratories in the world who are expert sequencers is limited; (2) that many applications call for the analysis of hundreds of disease genes; and (3) that precise sequencing is time-consuming and expensive. These reasons have led to the development and refinement of a large number of DNA scanning methods in an attempt to develop economical and effective methods. There have been numerous articles reviewing and describing such meth- ods in recent years’-7. This work has been moving towards the elusive ‘ideal scanning method’ (Box 1). In the last year or so, there have been no dramatic novel approaches described, except perhaps the DHPLC (denaturing high-performance liquid chromatography) method, a hetero- duplex variant (see below), but there have been signiticant studies with, or advances made in, the methods described so far, and these advances are the subject of this article. An earlier issue of Trends